ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr)

dbSNP: rs56330345
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643310 SCV000764997 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-11-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139993 SCV003821060 uncertain significance not provided 2023-01-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003139993 SCV004150247 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing TTN: PM2

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